Five variants of the beta-globin gene without clinical or hematological effects: Hb Maryland [beta 47(CD6)Asp-->His], Hb Kent [beta 37(C3)Trp-->Cys], Hb Visayan [beta 136(H14)Gly-->Cys], Hb Cutlerville [beta 138(H16)Ala-->Val] and Hb Hornchurch [beta 43(CD2)Glu-->Lys].
We report on five hemoglobin (Hb) beta chain variants that were initially identified either by electrophoretic, chromatographic or isoelectric focusing (IEF) methods. These variants do not appear to be associated with clinical or hematological abnormalities. All variants were confirmed by DNA sequence analysis.
Hoyer
James D
JD
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA. jhoyer@mayo.edu
Kaur
Prabhjot
P
Kozak
Elizabeth A
EA
Lum
Sophia
S
Alter
David N
DN
D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D017422:Sequence Analysis, DNA; D055544:beta-Globins / Q000235:genetics*
D055544:beta-Globins